Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181328A>G , CM000685.2:g.151181328A>G | GRCh38 |
| NC_000023.10:g.150349800A>G , CM000685.1:g.150349800A>G | GRCh37 |
| NC_000023.9:g.150100458A>G | NCBI36 |
| NG_016405.1:g.9745A>G | |
| NG_016405.2:g.9745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.1745A>G MANE Select | ENSP00000218316.3:p.Asp582Gly | |
| ENST00000218316.3:c.1745A>G | ENSP00000218316.3:p.Asp582Gly | |
| ENST00000617907.1:c.1739A>G | ENSP00000484496.1:p.Asp580Gly | |
| NM_004224.3:c.1745A>G MANE Select | NP_004215.2:p.Asp582Gly | |
| XM_011531216.1:c.1004A>G | XP_011529518.1:p.Asp335Gly | |
| XM_011531216.2:c.1004A>G | XP_011529518.1:p.Asp335Gly |